Truncating mutation in the NHS gene: Phenotypic heterogeneity of Nance-Horan syndrome in an Asian Indian family

Investigative Ophthalmology and Visual Science

Volumn 46, Issue 1, 2005, Pages 17-23

  Ramprasad, Vedam Lakshmi ^a   Thool, Alka ^b   Murugan, Sakthivel ^a   Nancarrow, Derek ^c   Vyas, Prateep ^b   Rao, Srinivas Kamalakar ^d   Vidhya, Authiappan ^a   Ravishankar, Krishnamoorthy ^d   Kumaramanickavel, Govindasamy ^a,e  

^a VISION RESEARCH FOUNDATION   (India)

^b Shri Ganapati Netralaya   (India)

^c QIMR BERGHOFER MEDICAL RESEARCH INSTITUTE   (Australia)

^d MEDICAL RESEARCH FOUNDATION   (India)

^e NONE   (India)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ALLELE; ARTICLE; ASIAN; CHROMOSOMAL LOCALIZATION; CHROMOSOME XP; CLINICAL ARTICLE; CLINICAL FEATURE; CONGENITAL CATARACT; CONTROLLED STUDY; CORNEA DISEASE; DOMINANT INHERITANCE; FAMILY; FEMALE; GENE; GENE MAPPING; GENE MUTATION; GENETIC ANALYSIS; GENETIC HETEROGENEITY; GENETIC LINKAGE; GENETIC SCREENING; GENOTYPE; HETEROZYGOTE; HUMAN; INDIAN; MALE; MICROSATELLITE MARKER; MUTATIONAL ANALYSIS; NANCE HORAN SYNDROME; NHS GENE; PEDIGREE ANALYSIS; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RECESSIVE INHERITANCE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; STOP CODON; X CHROMOSOME LINKED DISORDER;

ADOLESCENT; ADULT; CATARACT; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, X; EXONS; FEMALE; GENETIC DISEASES, X-LINKED; GENETIC HETEROGENEITY; GENOTYPE; HUMANS; INDIA; LINKAGE (GENETICS); LOD SCORE; MALE; MICROSATELLITE REPEATS; MIDDLE AGED; MUTATION, MISSENSE; NUCLEAR PROTEINS; PEDIGREE; PHENOTYPE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION;

EID: 11144279271     PISSN: 01460404     EISSN: None     Source Type: Journal    
DOI: 10.1167/iovs.04-0477     Document Type: Article

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